title: Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
abstract: OBJECTIVE
  Syndromic diarrhoea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital syndrome. The main features are intractable diarrhoea of infancy, hair abnormalities, facial dysmorphism, intrauterine growth restriction and immune system abnormalities. It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. The long-term outcome of this syndrome is still unknown. We aim to describe the long-term outcome, in the French cohort of patients born since 1992.
  
  
  METHODS
  Review of the clinical and biological features of the 15 patients with SD/THE, followed in France and born between 1992 and 2010.
  
  
  RESULTS
  All patients presented typical SD/THE syndrome features, of intractable diarrhoea in infancy requiring parenteral nutrition, a facial dysmorphism with hair abnormalities, and immunological disorders. Half of them also had liver and skin abnormalities. Five children died, among which 3 died due to infections. Probabilities of survival according to the Kaplan-Meier method were 93.3%, 86.7%, 74.3 and 61.9%, respectively at 1 year, 5 years, 10 years and 15 years of age. 3/15 were weaned from parenteral nutrition (PN) with likelihood of weaning being 10% at 5 years and 40% at 10 years. At birth 80% were small for gestational age and the short stature persisted in 60%. Haemophagocytic syndrome was noted in 60% and mild mental retardation was present in 60%.
  
  
  CONCLUSIONS
  SD/THE is a rare disease with high morbidity and mortality. Management should be focused on nutrition and immunological defects.
authors.affiliation: Service de Pédiatrie Multidisciplinaire, Hôpital d'enfants de la Timone, , Marseille, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Fabre
authors.forename: Anne
authors.initials: A
authors.lastname: Breton
authors.forename: Marie-Edith
authors.initials: ME
authors.lastname: Coste
authors.forename: Virginie
authors.initials: V
authors.lastname: Colomb
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dubern
authors.forename: Alain
authors.initials: A
authors.lastname: Lachaux
authors.forename: Julie
authors.initials: J
authors.lastname: Lemale
authors.forename: Julien
authors.initials: J
authors.lastname: Mancini
authors.forename: Evelyne
authors.initials: E
authors.lastname: Marinier
authors.forename: Christine
authors.initials: C
authors.lastname: Martinez-Vinson
authors.forename: Noel
authors.initials: N
authors.lastname: Peretti
authors.forename: Ariane
authors.initials: A
authors.lastname: Perry
authors.forename: Bertrand
authors.initials: B
authors.lastname: Roquelaure
authors.forename: Aude
authors.initials: A
authors.lastname: Venaille
authors.forename: Jacques
authors.initials: J
authors.lastname: Sarles
authors.forename: Olivier
authors.initials: O
authors.lastname: Goulet
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
mesh_terms: D017677:Age Distribution; D002352:Carrier Proteins / Q000235:genetics*; D015331:Cohort Studies; D004265:DNA Helicases / Q000235:genetics*; D003967:Diarrhea / Q000235:genetics*; D003968:Diarrhea, Infantile / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D005602:France / Q000453:epidemiology; D006201:Hair Diseases / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D008099:Liver / Q000002:abnormalities; D008297:Male; D010288:Parenteral Nutrition / Q000706:statistics & numerical data*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; C550452:TTC37 protein, human; D004265:DNA Helicases; C114718:SKIV2L protein, human
keywords: Gastroenterology; Genetics; Growth